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spastic ataxia 2
Summary
- Definition
- A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13.
- Super Class
- autosomal recessive disease spastic ataxia
External Links
- Disease Ontology
- DOID:0050941
- Mondo Disease Ontology
- OMIM
